The cone dysfunction syndromes. Br J Ophthalmol 2016 Jan;100(1):115-21
Date
03/15/2015Pubmed ID
25770143Pubmed Central ID
PMC4717370DOI
10.1136/bjophthalmol-2014-306505Scopus ID
2-s2.0-84952638972 (requires institutional sign-in at Scopus site) 103 CitationsAbstract
The cone dysfunction syndromes are a heterogeneous group of inherited, predominantly stationary retinal disorders characterised by reduced central vision and varying degrees of colour vision abnormalities, nystagmus and photophobia. This review details the following conditions: complete and incomplete achromatopsia, blue-cone monochromatism, oligocone trichromacy, bradyopsia and Bornholm eye disease. We describe the clinical, psychophysical, electrophysiological and imaging findings that are characteristic to each condition in order to aid their accurate diagnosis, as well as highlight some classically held notions about these diseases that have come to be challenged over the recent years. The latest data regarding the genetic aetiology and pathological changes observed in the cone dysfunction syndromes are discussed, and, where relevant, translational avenues of research, including completed and anticipated interventional clinical trials, for some of the diseases described herein will be presented. Finally, we briefly review the current management of these disorders.
Author List
Aboshiha J, Dubis AM, Carroll J, Hardcastle AJ, Michaelides MAuthor
Joseph J. Carroll PhD Director, Professor in the Ophthalmology and Visual Sciences department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Color Vision DefectsGenotype
Humans
Phenotype
Retinal Cone Photoreceptor Cells
Retinal Diseases
Syndrome
